Canonical Allele Identifier: CA360477289

Gene: PCSK1

Linked Data

• COSMIC: COSM3141843
• MyVariant Identifiers: chr5:g.95729057T>G (hg19) ; chr5:g.96393353T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96393353T>G , CM000667.2:g.96393353T>G	GRCh38
NC_000005.9:g.95729057T>G , CM000667.1:g.95729057T>G	GRCh37
NC_000005.8:g.95754813T>G	NCBI36
NG_021161.1:g.44929A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1910A>C MANE Select	ENSP00000308024.2:p.Lys637Thr
ENST00000311106.7:c.1910A>C	ENSP00000308024.2:p.Lys637Thr
ENST00000508626.5:c.1769A>C	ENSP00000421600.1:p.Lys590Thr
ENST00000513085.1:n.1053A>C
NM_000439.4:c.1910A>C	NP_000430.3:p.Lys637Thr
NM_001177875.1:c.1769A>C	NP_001171346.1:p.Lys590Thr
NR_130776.1:n.354+13701T>G
NM_000439.5:c.1910A>C MANE Select	NP_000430.3:p.Lys637Thr
NM_001177875.2:c.1769A>C	NP_001171346.1:p.Lys590Thr